Gene Gene information from NCBI Gene database.
Entrez ID 63876
Gene name PBX/knotted 1 homeobox 2
Gene symbol PKNOX2
Synonyms (NCBI Gene)
PREP2
Chromosome 11
Chromosome location 11q24.2
Summary Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class
miRNA miRNA information provided by mirtarbase database.
97
miRTarBase ID miRNA Experiments Reference
MIRT655040 hsa-miR-665 HITS-CLIP 23824327
MIRT655039 hsa-miR-5193 HITS-CLIP 23824327
MIRT655038 hsa-miR-6734-3p HITS-CLIP 23824327
MIRT655037 hsa-miR-2114-3p HITS-CLIP 23824327
MIRT655035 hsa-miR-6823-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0003677 Function DNA binding IEA
GO:0003785 Function Actin monomer binding IEA
GO:0005515 Function Protein binding IPI 20211142, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613066 16714 ENSG00000165495
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96KN3
Protein name Homeobox protein PKNOX2 (Homeobox protein PREP-2) (PBX/knotted homeobox 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16493 Meis_PKNOX_N 96 181 N-terminal of Homeobox Meis and PKNOX1 Family
PF05920 Homeobox_KN 306 345 Homeobox KN domain Family
Sequence
MMQHASPAPALTMMATQNVPPPPYQDSPQMTATAQPPSKAQAVHISAPSAAASTPVPSAP
IDPQAQLEADKRAVYRHPLFPLLTLLFEKCEQATQGSECITSASFDVDIENFVHQQEQEH
KPFFSDDPELDNLMVKAIQVLRIHLLELEKVNELCKDFCNRYITCLKTKMHSDNLLRNDL
G
GPYSPNQPSINLHSQDLLQNSPNSMSGVSNNPQGIVVPASALQQGNIAMTTVNSQVVSG
GALYQPVTMVTSQGQVVTQAIPQGAIQIQNTQVNLDLTSLLDNEDKKSKNKRGVLPKHAT
NIMRSWLFQHLMHPYPTEDEKRQIAAQTNLTLLQVNNWFINARRRILQPMLDASNPDPAP
KAKKIKSQHRPTQRFWPNSIAAGVLQQQGGAPGTNPDGSINLDNLQSLSSDSATMAMQQA
MMAAHDDSLDGTEEEDEDEMEEEEEEELEEEVDELQTTNVSDLGLEHSDSLE
Sequence length 472
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CREUTZFELDT JACOB DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autosomal dominant compelling helio ophthalmic outburst syndrome Achoo syndrome GWASCAT_DG 27182965
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29159193, 31268414
★☆☆☆☆
Found in Text Mining only
Fanconi Anemia Fanconi Anemia BEFREE 30515693
★☆☆☆☆
Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Anemia BEFREE 30515693
★☆☆☆☆
Found in Text Mining only
Hydrolethalus syndrome Hydrolethalus Syndrome BEFREE 15843405
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 30745575
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30745575
★☆☆☆☆
Found in Text Mining only
Prostate cancer, familial Prostate cancer CTD_human_DG 29892016
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1 Prostate Cancer, Hereditary CTD_human_DG 29892016
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer GWASCAT_DG 29892016
★★☆☆☆
Found in Text Mining + Unknown/Other Associations